CN031873[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 220422	NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)	GARS1 (P4L)	Single nucleotide variant (5 prime UTR variant +1 more)	Neuronopathy, distal hereditary motor, type 5A +6 more	GBenign/Likely benign
Select item 137444	NM_002047.4(GARS1):c.93G>C (p.Leu31=)	GARS1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 2 +5 more	GBenign
Select item 258532	NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)	GARS1 (P42A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +7 more	GBenign
Select item 137439	NM_002047.4(GARS1):c.222+5C>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +5 more	GBenign
Select item 422016	NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)	GARS1 (K85E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2D +5 more	GConflicting classifications of pathogenicity
Select item 245685	NM_002047.4(GARS1):c.302G>A (p.Arg101His)	GARS1 (R101H +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5A +5 more	GConflicting classifications of pathogenicity
Select item 188100	NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)	GARS1 (T268I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 137440	NM_002047.4(GARS1):c.1062T>C (p.Phe354=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign
Select item 360012	NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)	GARS1 (R388Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign/Likely benign
Select item 137441	NM_002047.4(GARS1):c.1613+9T>C	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +6 more	GBenign
Select item 137442	NM_002047.4(GARS1):c.1833T>C (p.Val611=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GBenign
Select item 216550	NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)	GARS1 (V618I +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, type 5A +5 more	GConflicting classifications of pathogenicity
Select item 246654	NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu)	GARS1 (P681L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 258536	NM_002047.4(GARS1):c.2095-6C>T	GARS1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +7 more	GBenign
Select item 137443	NM_002047.4(GARS1):c.2145A>G (p.Thr715=)	GARS1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GBenign
Select item 246574	NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)	BSCL2, HNRNPUL2-BSCL2 (A185T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 4544	NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)	BSCL2, HNRNPUL2-BSCL2 (S90L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease type 2 +3 more	GPathogenic/Likely pathogenic